With a whopper of a name, Alpha-1 was once
nicknamed “The Viking Disease” because it was
prevalent in geographic areas where the Vikings
traveled. Alpha-1 is a protein that is
manufactured in the liver, and balances the
enzyme that helps with keeping the lungs
“clean.” The deficiency can result in the
enzyme attacking the lungs.

Because this deficiency is genetic, it is passed
on through generations. Most people have
normal genes. Others have one normal gene,
and one with a defect. When it comes to
genes, there are variations that contribute to
abnormalities being passed on.

In general, doctors test for Alpha-1 when they
see lung disease and no obvious cause. The
smoker or secondhand smoker may be diagnosed
with one condition (bronchitis, for example),
with the “clues” pointing toward smoking.
The Alpha-1 test will differentiate whether the
patient was predisposed to lung problems because
of a genetic, rather than environmental or
behavioral cause.

Individuals with Alpha-1 are susceptible to lung
infections, regardless of age. The young
person with Alpha-1 may be diagnosed with
asthma, and treated with medications that don’t
correct the problem sufficiently.

Knowing the Alpha-1 status helps caregivers and
loved ones understand the limitations of certain
treatments. It also helps the physician
properly guide the course of treatment, sending
the person to the appropriate specialist.

The liver is another organ Alpha-1 can attack.
Individuals may be diagnosed with cirrhosis of
the liver, and lifestyle activities be branded
the cause. Even infants with Alpha-1 can
have liver damage, and while early intervention
helps with management, liver transplantation is
the only “cure.”

Lungs and liver are not the only organs Alpha-1
can affect. Panniculitis is inflammation
of the fatty tissue under the skin. The
skin is the largest organ in the body, although
it is not thought of as an organ by many without
medical training (or good trivia skills).

Since more than one organ can be affected,
doctors and Alpha-1 patients and caregivers
refer to the primary organ affected when
histories are given.

DIAGNOSIS AND RESEARCH

The Alpha-1 Association has made diagnosis and
participation in research efforts easy for those
interested. While the majority of Alpha-1
testing by doctors is done when there are
problems noted (lung disease without an apparent
cause or history), anyone can be tested and be
guaranteed of confidential results.
The website www.alphaoneregistry.org not only
houses confidential information on those who
carry the gene, but those who are living with
Alpha-1. By registering, you begin the
first stage in learning your genetic
predisposition, and helping in research.
The DNA and Tissue Bank at University of Florida
accepts blood and tissue donations to further
research links between Alpha-1 and other
processes. You do not have to be diagnosed
with Alpha-1 to donate, but you will be helping
research efforts. Contact them toll free
at 1-866-284-2708 to see what research can offer
you, and vice versa.

CARING FOR THE ALPHA-1

With any lung imbalance, it is important to
follow common sense. Cessation of smoking
and staying away from secondhand smoke and other
pollutants is primary. Talk to the doctor
about physical exercise instruction from a
licensed physical therapist to determine how to
build lung capacity without sapping endurance.

Monitoring allergies and exposure to other
allergens is a “given.” Yet, caregivers
and loved ones often ignore subtle allergens
such as mild food allergies, soaps and colognes
and cleaning solutions that do the job but leave
one gasping for air. Exposure to these
allergens may be eliminated within the home, but
visits to the doctor, grocery or shopping center
are difficult to control. When
encountering these possible irritants, move away
quickly to reduce the effect.

If your loved one qualifies for treatment by
augmentation therapy (IV infusions of human
plasma containing Alpha-1 antitrypsin protein),
caregivers may be trained to administer therapy.
Knowing how much you and your loved one are
capable of handling at home will make for better
therapy. Proper nursing instruction and
supervision are required. If you cannot
envision being able to handle at-home therapy,
be frank with staff and continue treatments at a
professional center.
Administering any medications must be done as
the doctor directs. As with any medical
decision, if your loved one is diagnosed with
Alpha-1, find a doctor who recognizes the
significance of diagnosis, regardless of smoking
history.

ONE DIAGNOSIS HELPS MANY

Within your own family, having a member
diagnosed with Alpha-1 can assist other family
members should problems crop up. Since
diagnosis can be confidential, testing can be
done as a family health project. The goal
is to help future generations maintain their
health and receive treatment appropriate to
their situation. The Alpha-1 Association
has support groups, advocacy efforts and
information that bring power to patient and
caregiver.

Information can be frightening to some people.
Some worry that if the insurance company is
aware, they will be dropped. Alpha-1 seeks
to advocate on behalf of people who may be
discriminated against because of genetic
conditions. The more people who supply the
organization with information, the greater the
chances of understanding this (and other)
genetic processes.